Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3515 | 10768;10769;10770 | chr2:178757677;178757676;178757675 | chr2:179622404;179622403;179622402 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3469 | 10630;10631;10632 | chr2:178757677;178757676;178757675 | chr2:179622404;179622403;179622402 |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/V | None | None | None | None | None | 0.249 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.8335 | likely_pathogenic | None | None | -2.508 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/C | 0.711 | likely_pathogenic | None | None | -1.163 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/D | 0.9436 | likely_pathogenic | None | None | -1.713 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/E | 0.9403 | likely_pathogenic | None | None | -1.646 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/G | 0.9449 | likely_pathogenic | None | None | -2.845 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/H | 0.7902 | likely_pathogenic | None | None | -1.24 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/I | 0.4715 | ambiguous | None | None | -1.483 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/K | 0.9475 | likely_pathogenic | None | None | -1.444 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/L | 0.9263 | likely_pathogenic | None | None | -1.483 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/M | 0.7828 | likely_pathogenic | None | None | -0.981 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/N | 0.8963 | likely_pathogenic | None | None | -1.426 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/P | 0.9927 | likely_pathogenic | None | None | -1.821 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Q | 0.9115 | likely_pathogenic | None | None | -1.581 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/R | 0.8849 | likely_pathogenic | None | None | -0.676 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/S | 0.7473 | likely_pathogenic | None | None | -2.143 | Highly Destabilizing | None | None | None | None | None | None | None | None | I |
| F/T | 0.7283 | likely_pathogenic | None | None | -1.984 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/V | 0.4313 | ambiguous | None | None | -1.821 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/W | 0.6793 | likely_pathogenic | None | None | -0.838 | Destabilizing | None | None | None | None | None | None | None | None | I |
| F/Y | 0.2931 | likely_benign | None | None | -1.019 | Destabilizing | None | None | None | None | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.